2nd MECP2 Duplication Syndrome Family Conference

The 2nd MECP2 Duplication Syndrome Family Conference will be held in Houston, Texas, March 27-29, 2013.  To download a conference brochure, use this link: 2013 Houston MECP2 Conference Brochure   [Click on this link to download Conference Brochure]. The conference will be held at the Hilton Plaza Medical Center Hotel:

MECP2 Duplication and Miscarriage

Whether or not MECP2 Duplication Syndrome is associated with a higher rate of miscarriage during pregnancy remains an open question. Some families have reported a history of miscarriage in families carrying the duplication and voiced the question of whether there is a connection.

At this point there seems to be inadequate data to draw a conclusion. However, one research study crossed MECP2 Duplication Lab mice with other lab mice. Simple genetics would have predicted that 25% of offspring would have MECP2 Duplications, but researches found that only 11% of surviving offspring had the duplication (Alvarez-Saavedra et al., 2010). This strongly suggests that MECP2 duplication reduces the chances of fetal survival, but there might be some other explanation. In addition, even if true, the applications of these findings to humans is unclear.

So the question remains open at this time pending further research.

Alvarez-Saavedra, M., Carrasco, L., Sura-Trueba, S., Demarchi Aiello, V., Walz, K., Neto, J. X., et al. Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development. Human Molecular Genetics, 19(11), 2177-2190. [e-publication 2010/03/06].

Australian Broadcasting Corporation MECP2 Segment

23 November 2012 The Australian Broadcasting Corporation MECP2 aired a great segment on MECP 2 Duplication Syndrome featuring the Holland Family and the Wright family. It is available on-line at this link. The segment has sparked a lot of interest in the condition. Concurrently  with this broadcast the new Van Wright Foundation website on MECP2 Duplication Syndrome was also launched.

UK Conference

11 May 2013 – 9.30 to 4.00

Greater Manchester Police Sports and Social Club, The Hough End Centre. Mauldeth Road West. Chorlton. Manchester. M21 7SX

Cost of the event is £25 per adult and all children are free. This includes a hot buffet lunch and tea/coffee. Snacks/drinks will be provided for all children.
Booking forms and a programme will be available early in the New year.

Professor Jill Clayton-Smith (Geneticist) will give a presentation on MECP2 Duplication Syndrome and offer support to individual families.
Tobii Eye-Gaze will offer every affected child a communication eye-gaze trial. This will be ongoing throughout the day.
Clifford Challenger from Epilepsy Action (service manager in the north east) will give a presentation and offer advise to families.
Nordoff Robbins will involve all children/young adults and family members in a Music Therapy Session.

 

for more infor,sgiom, contsct rhonaconnelly1@aol.com

Save These Dates

- – - – 27 – 29 March 2013 – - – -

These have now been confirmed for the next MECP2 Family Conference to be held in Houston, Texas.

March 27-29, 2013

More details to follow.…

Family Conference Survey

The 2013 MECP2 Duplication Syndrome Family Conference is currently being planned. This survey is intended for families to provide input on the conference program. It is a short survey with just 10 questions, please take a few minutes to provide some input.Feel free to answer as many questions as you like and ignore some questions if you feel they are not applicable or you have no opinion about them.

May in Manchester

The UK MECP2 Duplication Syndrome Support Group is planning a conference for 11 May 2013 at the Hough End Conference Centre. More details will follow on this website. Mark your calendar! For more information, contact rhonaconnelly1@aol.com or mobile 07806470290.

MECP2 Family Conference Video

Here is the final cut of the Introduction from the May 2011 MECP2 Family Conference in Houston for anyone who hasn’t seen it. Thanks to Dr. Ramocki, Pam Albert, Dr. Zoghbi, The Blue Bird Circle Rett Center, Baylor College of Medicine, The JP Das Centre at the University of Alberta, and to everyone else who made this conference a great success.

Family Talk Update

Just a quick note to indicate that the information on the MECP2 Duplication Syndrome Family Talk FaceBook Group has been updated. Family members of individuals with MECP2 Duplication Syndrome are encouraged to consider joining the group.

In the News from Washington State

Families band together to unlock mysteries of rare genetic disorder

by Cathy Zimmerman in Washington’s The Daily News is about Jay Hegstad-Enneberg and the 401 Project. It includes a link to the project. Here is a brief quote:

In January, those 200 families banded together to raise $236,000, the amount necessary to fund research directed at unlocking the mysteries of MECP2 at Baylor College of Medicine in Houston.

The group calls itself “The 401 Project,” because $401 is the amount each family must raise to fund the research.

Click here for the whole story…